FAM65C C566S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

FAM65C C566S

(FAM65C Cys566Ser)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr20:49214198: 2.5% (264/10758) in EVS
  • G @ chr20:48647604: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 2.5% (264/10758)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr20:49214198

 

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr20:49214198

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr20:49214198

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr20:48647605

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr20:48647605

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr20:48647605

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr20:48647605

 

Other external references
 

    dbSNP
  • rs35965508
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.881 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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